Integrated Genetics/Laboratory Corporation of America (Laboratory Corporation of America), IG
General information
Integrated Genetics/Laboratory Corporation of America, IG
Laboratory Corporation of America
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026
Laboratory Corporation of America
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026
Personnel
- Wenjie Chen, Staff
Phone: 508-389-8391
Email: Chenw5@LabCorp.com - Sabrina Gardner, Staff
Phone: 919-224-5692
Email: Gardns2@LabCorp.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18507
Gene
Gene | Submissions | Last Updated |
---|---|---|
A2ML1 | 128 | Dec 31, 2020 |
ABCA1 | 50 | Dec 31, 2020 |
ABCA4 | 3 | Apr 29, 2020 |
ABCB4 | 1 | Dec 31, 2020 |
ABCC8 | 57 | Dec 2, 2020 |
ABCC9 | 36 | Nov 10, 2020 |
ABCD1 | 15 | Aug 6, 2020 |
ABRAXAS1 | 56 | Dec 2, 2020 |
ACAD9 | 1 | Oct 6, 2020 |
ACADM | 25 | Dec 31, 2020 |
ACADVL | 27 | Dec 2, 2020 |
ACAT1 | 12 | Jul 9, 2020 |
ACER3 | 2 | Mar 6, 2020 |
ACSF3 | 2 | Dec 31, 2020 |
ACSL4 | 2 | Sep 9, 2020 |
ACTA2 | 8 | Nov 10, 2020 |
ACTA2-AS1 | 3 | Nov 10, 2020 |
ACTC1 | 26 | Nov 10, 2020 |
ACTN2 | 29 | Dec 31, 2020 |
ACYP1 | 1 | Jan 25, 2018 |
ADA | 19 | Dec 31, 2020 |
ADA2 | 1 | Dec 2, 2020 |
ADAMTS2 | 25 | Apr 29, 2020 |
ADAMTSL2 | 1 | Apr 29, 2020 |
ADAT3 | 2 | Dec 31, 2020 |
ADGRG6 | 1 | Jul 1, 2020 |
ADGRV1 | 1 | Mar 6, 2020 |
ADRA2B | 1 | Mar 6, 2020 |
AFF2 | 2 | Mar 6, 2020 |
AFF4 | 1 | Aug 6, 2020 |
AGA | 3 | Dec 31, 2020 |
AGL | 30 | Oct 6, 2020 |
AGXT | 20 | Dec 2, 2020 |
AICDA | 5 | Jul 9, 2020 |
AIFM1 | 2 | Jul 1, 2020 |
AIRE | 26 | Dec 31, 2020 |
AKAP9 | 50 | Dec 31, 2020 |
AKT3 | 1 | Mar 6, 2020 |
ALDH3A2 | 15 | Sep 9, 2020 |
ALDOB | 16 | Dec 2, 2020 |
ALG11 | 1 | Aug 18, 2011 |
ALG12 | 2 | Oct 6, 2020 |
ALG13 | 1 | Mar 6, 2020 |
ALG2 | 2 | May 13, 2020 |
ALK | 29 | Dec 2, 2020 |
ALMS1 | 115 | Dec 31, 2020 |
ALPL | 24 | Nov 10, 2020 |
AMT | 3 | Aug 6, 2020 |
ANK2 | 90 | Dec 31, 2020 |
ANKRD1 | 11 | Jan 25, 2018 |
ANKRD11 | 1 | Mar 6, 2020 |
ANOS1 | 1 | Oct 6, 2020 |
AOPEP | 22 | Oct 6, 2020 |
AP4B1 | 1 | Mar 6, 2020 |
APBB1 | 2 | Sep 24, 2019 |
APC | 408 | Dec 31, 2020 |
APOA1 | 7 | Dec 2, 2020 |
APOA1-AS | 5 | Dec 2, 2020 |
APOA2 | 11 | Dec 31, 2020 |
APOA5 | 8 | Jan 25, 2018 |
APOB | 12 | Sep 9, 2020 |
APOC3 | 4 | Aug 6, 2020 |
AQP2 | 6 | Nov 17, 2015 |
ARID1A | 1 | Oct 6, 2020 |
ARSA | 31 | Dec 31, 2020 |
ARSB | 13 | Nov 10, 2020 |
ARSL | 1 | Apr 29, 2020 |
ARX | 3 | Mar 6, 2020 |
ASAH1 | 1 | Apr 29, 2020 |
ASB11 | 1 | Sep 9, 2020 |
ASL | 13 | Jul 9, 2020 |
ASPA | 12 | Apr 29, 2020 |
ASPM | 3 | Mar 6, 2020 |
ASS1 | 22 | Aug 6, 2020 |
ASXL1 | 2 | Apr 24, 2019 |
ATL1 | 1 | Mar 6, 2020 |
ATM | 608 | Dec 31, 2020 |
ATN1 | 1 | Apr 29, 2020 |
ATP13A2 | 1 | Dec 2, 2020 |
ATP1A3 | 1 | Mar 6, 2020 |
ATP1B1 | 7 | Jul 9, 2020 |
ATP5MK | 1 | Oct 6, 2020 |
ATP7A | 1 | May 13, 2020 |
ATP7B | 207 | Dec 31, 2020 |
ATP8A2 | 2 | Mar 6, 2020 |
ATP8B1 | 1 | Apr 29, 2020 |
ATR | 11 | Jan 25, 2018 |
ATRX | 5 | Dec 31, 2020 |
AVIL | 1 | Dec 31, 2020 |
AVPR2 | 15 | Nov 17, 2015 |
AXDND1 | 8 | Jul 1, 2020 |
AXIN2 | 26 | Aug 6, 2020 |
BAG3 | 22 | Dec 31, 2020 |
BARD1 | 136 | Dec 31, 2020 |
BBS1 | 16 | Sep 9, 2020 |
BBS10 | 23 | May 13, 2020 |
BBS2 | 23 | Sep 9, 2020 |
BCHE | 3 | Jul 1, 2020 |
BCKDHA | 11 | Nov 10, 2020 |
BCKDHB | 17 | Aug 6, 2020 |
BCOR | 1 | Apr 24, 2019 |
BCORL1 | 2 | May 13, 2020 |
BCS1L | 5 | Nov 10, 2020 |
BIVM-ERCC5 | 5 | Mar 6, 2020 |
BLM | 54 | Dec 31, 2020 |
BMPR1A | 56 | Dec 31, 2020 |
BRAF | 74 | Dec 31, 2020 |
BRCA1 | 1093 | Dec 31, 2020 |
BRCA2 | 1864 | Dec 31, 2020 |
BRIP1 | 175 | Dec 31, 2020 |
BTD | 1 | Mar 6, 2020 |
BTK | 37 | Apr 29, 2020 |
C11orf65 | 216 | Dec 31, 2020 |
C12orf43 | 2 | Nov 10, 2020 |
C8orf37 | 1 | Apr 29, 2020 |
CACNA1A | 1 | Apr 29, 2020 |
CACNA1C | 53 | Dec 2, 2020 |
CACNA1C-AS1 | 22 | Sep 9, 2020 |
CACNA1C-AS2 | 1 | Jan 25, 2018 |
CACNA1E | 1 | Mar 6, 2020 |
CACNA1H | 2 | Dec 2, 2020 |
CACNA1S | 8 | Mar 6, 2020 |
CACNB2 | 17 | Nov 10, 2020 |
CACNG2 | 1 | Apr 29, 2020 |
CALR3 | 11 | Jan 25, 2018 |
CAMK4 | 1 | Jul 1, 2020 |
CASQ2 | 12 | Apr 29, 2020 |
CASR | 32 | Dec 31, 2020 |
CAV3 | 9 | Dec 2, 2020 |
CBL | 47 | Dec 31, 2020 |
CBS | 39 | Dec 31, 2020 |
CC2D2A | 1 | Dec 2, 2020 |
CCBE1 | 1 | Mar 6, 2020 |
CCDC107 | 1 | Mar 6, 2020 |
CCDC40 | 1 | Jan 25, 2018 |
CD3D | 1 | Aug 18, 2011 |
CD3E | 7 | Apr 24, 2019 |
CD40 | 8 | Nov 10, 2020 |
CD40LG | 10 | Nov 10, 2020 |
CDC73 | 6 | Mar 6, 2020 |
CDH1 | 179 | Dec 31, 2020 |
CDK13 | 1 | May 13, 2020 |
CDK4 | 32 | Dec 2, 2020 |
CDK5RAP1 | 1 | Mar 6, 2020 |
CDKN2A | 47 | Dec 31, 2020 |
CEL | 2 | Apr 29, 2020 |
CENPF | 2 | Mar 6, 2020 |
CEP290 | 1 | Dec 31, 2020 |
CEP85L | 1 | Mar 6, 2020 |
CFTR | 636 | Dec 31, 2020 |
CFTR-AS1 | 59 | Dec 31, 2020 |
CHD4 | 1 | Apr 29, 2020 |
CHD7 | 21 | Mar 6, 2020 |
CHD8 | 1 | Mar 6, 2020 |
CHEK1 | 3 | Jan 25, 2018 |
CHEK2 | 148 | Dec 31, 2020 |
CHPT1 | 2 | Mar 6, 2020 |
CHRNA1 | 1 | Dec 31, 2020 |
CHST14 | 1 | Mar 6, 2020 |
CIC | 4 | Apr 29, 2020 |
CLCN1 | 1 | Mar 6, 2020 |
CLCN4 | 1 | Apr 29, 2020 |
CLCN7 | 1 | May 13, 2020 |
CLN3 | 11 | Dec 31, 2020 |
CLN5 | 7 | Apr 29, 2020 |
CLN8 | 1 | May 13, 2020 |
CLRN1 | 4 | Apr 24, 2019 |
CLRN1-AS1 | 1 | Jan 25, 2018 |
CNTN2 | 1 | Dec 31, 2020 |
CNTNAP5 | 1 | Nov 10, 2020 |
COBL | 1 | May 13, 2020 |
COL11A1 | 1 | Apr 29, 2020 |
COL12A1 | 1 | Mar 6, 2020 |
COL1A1 | 40 | Dec 31, 2020 |
COL1A2 | 31 | Mar 6, 2020 |
COL2A1 | 2 | Apr 24, 2019 |
COL3A1 | 72 | Dec 31, 2020 |
COL4A2 | 1 | Mar 6, 2020 |
COL4A3 | 24 | Nov 10, 2020 |
COL4A5 | 3 | Dec 31, 2020 |
COL4A6 | 1 | Mar 6, 2020 |
COL5A1 | 23 | Jul 1, 2020 |
COL5A2 | 13 | Mar 6, 2020 |
COL6A1 | 2 | Apr 29, 2020 |
COL7A1 | 3 | Mar 6, 2020 |
COL9A2 | 1 | Jul 1, 2020 |
COL9A3 | 1 | Apr 29, 2020 |
COQ9 | 1 | May 22, 2020 |
COX15 | 3 | Dec 2, 2020 |
CPLANE1 | 3 | Apr 29, 2020 |
CPS1 | 16 | Oct 6, 2020 |
CPT2 | 15 | Nov 10, 2020 |
CRB2 | 1 | Dec 31, 2020 |
CRBN | 1 | Mar 6, 2020 |
CREBBP | 1 | Mar 6, 2020 |
CRYBB1 | 1 | Oct 6, 2020 |
CSF2RA | 2 | Mar 6, 2020 |
CSRP3 | 6 | Sep 9, 2020 |
CTCF | 2 | Nov 10, 2020 |
CTF1 | 5 | Apr 29, 2020 |
CTNS | 17 | Nov 10, 2020 |
CTSA | 6 | Oct 6, 2020 |
CTSB | 1 | Dec 31, 2020 |
CUX2 | 1 | Mar 6, 2020 |
CYBB | 24 | Apr 29, 2020 |
CYP11B1 | 17 | Oct 18, 2019 |
CYP1B1 | 2 | Dec 31, 2020 |
CYP21A2 | 7 | Dec 2, 2020 |
D2HGDH | 1 | Dec 2, 2020 |
DCLRE1B | 1 | Mar 6, 2020 |
DCLRE1C | 5 | Sep 24, 2019 |
DDX3X | 1 | May 13, 2020 |
DEAF1 | 1 | Mar 6, 2020 |
DEPDC5 | 2 | Apr 29, 2020 |
DES | 13 | Nov 10, 2020 |
DES-LCR | 1 | Nov 10, 2020 |
DGKE | 2 | Dec 31, 2020 |
DHCR7 | 34 | Dec 31, 2020 |
DHDDS | 1 | Jan 25, 2018 |
DIAPH1 | 1 | Dec 2, 2020 |
DICER1 | 1 | Apr 29, 2020 |
DLD | 4 | Dec 31, 2020 |
DLG4 | 1 | Jan 25, 2018 |
DLL3 | 1 | Apr 24, 2019 |
DLL4 | 1 | Oct 6, 2020 |
DMD | 105 | Dec 31, 2020 |
DNA2 | 1 | Mar 6, 2020 |
DNAAF3 | 1 | Aug 18, 2011 |
DNAH7 | 2 | Mar 6, 2020 |
DNAJC19 | 3 | Apr 29, 2020 |
DNASE1L1 | 1 | Aug 18, 2011 |
DOCK3 | 2 | Sep 9, 2020 |
DOK7 | 1 | Apr 29, 2020 |
DPM2 | 1 | Nov 10, 2020 |
DPP6 | 1 | Dec 2, 2020 |
DPYD | 15 | Dec 31, 2020 |
DPYD-AS1 | 2 | Sep 9, 2020 |
DSC2 | 42 | Dec 2, 2020 |
DSCAS | 1 | Sep 9, 2020 |
DSG2 | 38 | Dec 31, 2020 |
DSG2-AS1 | 14 | Oct 6, 2020 |
DSP | 116 | Dec 31, 2020 |
DTNA | 20 | Sep 9, 2020 |
DUOX2 | 2 | Apr 24, 2019 |
DYNC1H1 | 1 | Dec 2, 2020 |
DYRK1A | 4 | Dec 2, 2020 |
EDNRB | 1 | Mar 6, 2020 |
EDNRB-AS1 | 1 | Mar 6, 2020 |
EFEMP2 | 5 | Jan 25, 2018 |
EFHC1 | 1 | Mar 6, 2020 |
EFNB1 | 1 | May 13, 2020 |
EFNB2 | 1 | Mar 6, 2020 |
EHMT1 | 1 | Dec 31, 2020 |
EIF2B2 | 2 | Sep 9, 2020 |
ELN | 1 | Dec 2, 2020 |
ELP1 | 12 | Mar 6, 2020 |
EMD | 8 | Dec 31, 2020 |
EP300 | 1 | Dec 2, 2020 |
EPCAM | 5 | Oct 22, 2020 |
ERCC2 | 2 | Jul 1, 2020 |
ERCC3 | 1 | Apr 29, 2020 |
ERCC5 | 5 | Mar 6, 2020 |
ERCC6 | 1 | Dec 31, 2020 |
ERCC8 | 2 | Dec 31, 2020 |
ERMARD | 1 | Apr 24, 2019 |
ETFDH | 1 | Mar 6, 2020 |
ETHE1 | 8 | Dec 31, 2020 |
EXT1 | 1 | Apr 24, 2019 |
EYA4 | 14 | Dec 31, 2020 |
EYS | 2 | Oct 6, 2020 |
FAH | 16 | Nov 10, 2020 |
FAM20A | 4 | Mar 6, 2020 |
FANCC | 40 | Dec 2, 2020 |
FANCI | 2 | Mar 6, 2020 |
FAT4 | 2 | May 13, 2020 |
FBN1 | 455 | Dec 31, 2020 |
FBN2 | 18 | Jan 25, 2018 |
FBXL3 | 7 | Apr 29, 2020 |
FCN3 | 1 | Nov 10, 2020 |
FCSK | 2 | Apr 29, 2020 |
FERMT3 | 1 | Mar 6, 2020 |
FGD1 | 2 | Apr 29, 2020 |
FGF23 | 2 | Aug 18, 2011 |
FGFR1 | 1 | Apr 29, 2020 |
FH | 9 | Jul 9, 2020 |
FKRP | 1 | May 13, 2020 |
FKTN | 17 | Dec 2, 2020 |
FLCN | 13 | Dec 31, 2020 |
FOXP1 | 3 | Sep 9, 2020 |
FOXP2 | 1 | Apr 24, 2019 |
FOXRED1 | 3 | Oct 6, 2020 |
FRMPD4 | 1 | Nov 10, 2020 |
FUCA1 | 6 | Oct 6, 2020 |
G6PC1 | 22 | Jul 1, 2020 |
GAA | 123 | Dec 2, 2020 |
GABRQ | 1 | Apr 29, 2020 |
GAL3ST4 | 1 | Nov 10, 2020 |
GALC | 31 | Nov 10, 2020 |
GALNS | 30 | Dec 31, 2020 |
GALT | 96 | Dec 31, 2020 |
GAMT | 7 | Apr 29, 2020 |
GAREM2 | 11 | Aug 6, 2020 |
GATAD1 | 6 | Apr 29, 2020 |
GBA | 62 | Dec 2, 2020 |
GBA2 | 2 | Dec 31, 2020 |
GBE1 | 1 | May 13, 2020 |
GCDH | 20 | Mar 6, 2020 |
GCK | 113 | Dec 31, 2020 |
GDF5 | 1 | Jul 1, 2020 |
GDI1 | 1 | Sep 9, 2020 |
GEMIN5 | 1 | Mar 6, 2020 |
GH-LCR | 2 | Apr 29, 2020 |
GH1 | 1 | Aug 18, 2011 |
GHRHR | 4 | Aug 18, 2011 |
GINS3 | 2 | Mar 6, 2020 |
GJB1 | 1 | Jan 25, 2018 |
GJB2 | 89 | Dec 31, 2020 |
GLA | 141 | Dec 31, 2020 |
GLB1 | 22 | Dec 2, 2020 |
GLDC | 20 | Aug 6, 2020 |
GLI1 | 1 | Apr 29, 2020 |
GLI2 | 1 | Mar 6, 2020 |
GML | 17 | Oct 18, 2019 |
GNAI3 | 1 | Apr 29, 2020 |
GNPTAB | 30 | Oct 6, 2020 |
GNS | 1 | Jan 25, 2018 |
GP9 | 1 | Jul 1, 2020 |
GPAA1 | 1 | Mar 6, 2020 |
GPC3 | 6 | Apr 24, 2019 |
GPD1L | 6 | Jul 9, 2020 |
GREB1L | 1 | Apr 29, 2020 |
GRHPR | 7 | Mar 6, 2020 |
GRIN2A | 1 | Mar 6, 2020 |
GRIN2B | 1 | Mar 6, 2020 |
GRXCR1 | 1 | Dec 2, 2020 |
GSS | 6 | Apr 29, 2020 |
GUF1 | 2 | Dec 31, 2020 |
GUSB | 8 | Aug 6, 2020 |
HADHA | 25 | Nov 10, 2020 |
HADHB | 2 | Jul 9, 2020 |
HBB | 255 | Dec 31, 2020 |
HCFC1 | 1 | Jul 1, 2020 |
HDAC2 | 1 | Dec 31, 2020 |
HDAC8 | 3 | Apr 29, 2020 |
HEPACAM | 1 | Mar 6, 2020 |
HEXA | 52 | Dec 31, 2020 |
HEXB | 22 | Dec 2, 2020 |
HFE | 1 | Apr 24, 2019 |
HFE-AS1 | 1 | Apr 24, 2019 |
HGSNAT | 19 | Nov 10, 2020 |
HLCS | 7 | Sep 24, 2019 |
HMGCL | 7 | Dec 2, 2020 |
HNF1A | 46 | Dec 31, 2020 |
HNF1B | 22 | Nov 10, 2020 |
HNF4A | 31 | Dec 2, 2020 |
HOPX | 4 | Mar 6, 2020 |
HPS1 | 2 | Nov 10, 2020 |
HRAS | 32 | Dec 2, 2020 |
HSD11B2 | 1 | Aug 18, 2011 |
HSD17B4 | 9 | Oct 6, 2020 |
HSD3B2 | 1 | Jul 22, 2020 |
HSPG2 | 3 | Jul 1, 2020 |
IDS | 8 | Mar 6, 2020 |
IDUA | 44 | Dec 2, 2020 |
IFNGR1 | 11 | Mar 6, 2020 |
IFNGR2 | 4 | Mar 6, 2020 |
IFT80 | 1 | Dec 31, 2020 |
IGHMBP2 | 1 | Apr 24, 2019 |
IKBKG | 9 | Aug 6, 2020 |
IL2RG | 14 | Oct 6, 2020 |
IL4I1 | 2 | Mar 6, 2020 |
IL7R | 9 | Dec 2, 2020 |
INF2 | 1 | Dec 31, 2020 |
INS | 5 | Nov 17, 2015 |
INS-IGF2 | 5 | Nov 17, 2015 |
INSR | 1 | Dec 2, 2020 |
IRF2BPL | 1 | Dec 2, 2020 |
IRF8 | 1 | Mar 6, 2020 |
ITPR1 | 1 | Apr 24, 2019 |
JAG1 | 1 | Apr 29, 2020 |
JAK3 | 18 | May 13, 2020 |
JUP | 41 | Dec 2, 2020 |
KBTBD13 | 1 | Dec 31, 2020 |
KCNC1 | 1 | Mar 6, 2020 |
KCNE1 | 6 | Aug 6, 2020 |
KCNE2 | 5 | Mar 6, 2020 |
KCNH2 | 59 | Dec 2, 2020 |
KCNJ11 | 4 | Aug 18, 2011 |
KCNJ2 | 6 | Apr 29, 2020 |
KCNK9 | 1 | Mar 6, 2020 |
KCNQ1 | 54 | Dec 31, 2020 |
KCNQ1-AS1 | 3 | Mar 6, 2020 |
KCNQ1OT1 | 5 | Mar 6, 2020 |
KDM3B | 1 | Mar 6, 2020 |
KDM5C | 1 | Dec 31, 2020 |
KDM6A | 1 | Dec 2, 2020 |
KIAA0586 | 1 | Mar 6, 2020 |
KIF14 | 1 | Mar 6, 2020 |
KIF1A | 1 | Oct 6, 2020 |
KIF5A | 1 | Apr 29, 2020 |
KIF7 | 1 | Jul 1, 2020 |
KIRREL2 | 1 | Mar 6, 2020 |
KLLN | 16 | May 13, 2020 |
KMT2C | 2 | Nov 10, 2020 |
KMT2E | 1 | Mar 6, 2020 |
KMT5B | 1 | Apr 29, 2020 |
KRAS | 23 | Dec 31, 2020 |
KRT14 | 1 | Mar 6, 2020 |
L1CAM | 4 | Oct 6, 2020 |
LAMA2 | 2 | Mar 6, 2020 |
LAMA3 | 5 | Mar 6, 2020 |
LAMA5 | 1 | Aug 6, 2020 |
LAMB3 | 22 | Dec 2, 2020 |
LAMC2 | 6 | Dec 31, 2020 |
LAMP2 | 5 | Mar 6, 2020 |
LCT | 2 | Apr 29, 2020 |
LDB3 | 30 | Dec 2, 2020 |
LDLR | 188 | Dec 31, 2020 |
LDLR-AS1 | 2 | Sep 9, 2020 |
LDLRAP1 | 13 | Dec 31, 2020 |
LEPR | 3 | Aug 18, 2011 |
LHCGR | 3 | Aug 18, 2011 |
LIG3 | 26 | Dec 31, 2020 |
LMNA | 30 | Dec 31, 2020 |
LOC100507346 | 4 | Jul 1, 2020 |
LOC101448202 | 5 | Jul 1, 2020 |
LOC101927055 | 16 | Dec 31, 2020 |
LOC101927318 | 5 | Nov 17, 2015 |
LOC101928174 | 26 | Nov 10, 2020 |
LOC102724058 | 21 | Aug 6, 2020 |
LOC105378311 | 1 | Apr 24, 2019 |
LOC106050102 | 4 | Mar 6, 2020 |
LOC106099062 | 164 | Dec 31, 2020 |
LOC106627981 | 59 | Dec 2, 2020 |
LOC106736614 | 1 | Aug 18, 2011 |
LOC106780800 | 7 | Dec 2, 2020 |
LOC106799833 | 12 | Sep 24, 2019 |
LOC107133510 | 253 | Dec 31, 2020 |
LOC107303340 | 43 | Dec 31, 2020 |
LOC107303343 | 2 | Jul 1, 2020 |
LOC107652445 | 3 | Aug 18, 2011 |
LOC107982234 | 4 | Jul 1, 2020 |
LOC108491825 | 2 | Jan 25, 2018 |
LOC109461484 | 1 | Apr 29, 2020 |
LOC110006319 | 94 | Nov 10, 2020 |
LOC110011216 | 3 | Mar 6, 2020 |
LOC110121269 | 11 | Nov 10, 2020 |
LOC110631417 | 1 | Dec 2, 2020 |
LOC111674463 | 1 | Sep 24, 2019 |
LOC111674472 | 68 | Dec 31, 2020 |
LOC111674475 | 23 | Mar 6, 2020 |
LOC111674477 | 21 | Dec 2, 2020 |
LOC113633875 | 1 | Jan 25, 2018 |
LOC113633877 | 3 | Apr 24, 2019 |
LOC113664106 | 5 | Apr 29, 2020 |
LOC113939944 | 5 | Nov 10, 2020 |
LOC114827827 | 6 | Dec 2, 2020 |
LOC114827850 | 1 | Sep 9, 2020 |
LOC114827851 | 4 | Sep 9, 2020 |
LOX | 7 | Jan 25, 2018 |
LPL | 13 | Sep 24, 2019 |
LRP5 | 3 | Nov 17, 2015 |
LRPPRC | 2 | Oct 6, 2020 |
LRRC56 | 32 | Dec 2, 2020 |
LZTR1 | 104 | Dec 31, 2020 |
MACF1 | 1 | Nov 10, 2020 |
MAGEL2 | 1 | Aug 6, 2020 |
MAN2B1 | 21 | Dec 31, 2020 |
MANBA | 4 | Mar 6, 2020 |
MAP2K1 | 31 | Dec 31, 2020 |
MAP2K2 | 79 | Dec 2, 2020 |
MAPRE2 | 1 | Apr 24, 2019 |
MAX | 2 | Jan 25, 2018 |
MC2R | 1 | Dec 2, 2020 |
MC4R | 8 | Sep 24, 2019 |
MCOLN1 | 15 | Aug 6, 2020 |
MCPH1 | 1 | Mar 6, 2020 |
MEA1 | 1 | Apr 24, 2019 |
MECP2 | 76 | Dec 31, 2020 |
MED12 | 2 | May 13, 2020 |
MED13L | 1 | Mar 6, 2020 |
MEFV | 107 | Dec 31, 2020 |
MEGF8 | 1 | May 13, 2020 |
MEN1 | 27 | Dec 31, 2020 |
MET | 13 | Apr 29, 2020 |
METTL5 | 1 | Apr 29, 2020 |
MFF-DT | 22 | Nov 10, 2020 |
MHRT | 9 | May 13, 2020 |
MICU2 | 1 | Apr 29, 2020 |
MID1 | 1 | Apr 24, 2019 |
MIR3606 | 1 | Jan 25, 2018 |
MIR3936HG | 1 | Jan 25, 2018 |
MITF | 5 | Sep 24, 2019 |
MKS1 | 1 | Apr 24, 2019 |
MLH1 | 254 | Dec 31, 2020 |
MMAA | 7 | Mar 6, 2020 |
MMAB | 8 | Nov 10, 2020 |
MMACHC | 31 | Dec 2, 2020 |
MMUT | 39 | Dec 2, 2020 |
MN1 | 2 | Oct 6, 2020 |
MPL | 7 | Nov 10, 2020 |
MPZ | 1 | Jan 25, 2018 |
MRAS | 9 | Oct 6, 2020 |
MRE11 | 32 | Mar 6, 2020 |
MSH2 | 338 | Dec 31, 2020 |
MSH6 | 458 | Dec 31, 2020 |
MTM1 | 1 | Dec 2, 2020 |
MTTP | 14 | Oct 6, 2020 |
MUS81 | 1 | Jan 25, 2018 |
MUTYH | 126 | Dec 31, 2020 |
MVK | 1 | Jan 25, 2018 |
MYBPC3 | 84 | Dec 2, 2020 |
MYH11 | 87 | Dec 31, 2020 |
MYH14 | 1 | Dec 2, 2020 |
MYH6 | 83 | Dec 31, 2020 |
MYH7 | 69 | Dec 31, 2020 |
MYL2 | 15 | Dec 31, 2020 |
MYL3 | 9 | Oct 6, 2020 |
MYLK | 76 | Dec 31, 2020 |
MYLK-AS1 | 8 | Dec 2, 2020 |
MYLK2 | 15 | Dec 2, 2020 |
MYO1F | 1 | Mar 6, 2020 |
MYO7A | 1 | Dec 2, 2020 |
MYOT | 1 | Mar 6, 2020 |
MYOZ2 | 4 | Jan 25, 2018 |
MYRF | 1 | Apr 29, 2020 |
MYT1L | 1 | Mar 6, 2020 |
NADSYN1 | 1 | Jan 25, 2018 |
NAGA | 2 | Jul 1, 2020 |
NAGLU | 18 | Dec 31, 2020 |
NBN | 130 | Dec 31, 2020 |
NCOR2 | 1 | Aug 6, 2020 |
NDE1 | 31 | Dec 31, 2020 |
NDST1 | 1 | Dec 31, 2020 |
NDUFAF2 | 5 | Dec 31, 2020 |
NDUFS2 | 2 | Mar 6, 2020 |
NDUFS4 | 5 | Dec 2, 2020 |
NDUFS7 | 1 | Apr 24, 2019 |
NDUFV1 | 2 | Apr 24, 2019 |
NEB | 99 | Sep 9, 2020 |
NEDD4L | 1 | Mar 6, 2020 |
NEU1 | 3 | Apr 29, 2020 |
NEXMIF | 1 | Dec 31, 2020 |
NF1 | 115 | Dec 31, 2020 |
NF2 | 7 | Mar 6, 2020 |
NFIB | 1 | Aug 6, 2020 |
NFIX | 2 | Mar 6, 2020 |
NFKB2 | 1 | Apr 29, 2020 |
NKX2-1 | 1 | Mar 6, 2020 |
NKX2-5 | 10 | Mar 6, 2020 |
NLGN3 | 2 | Apr 29, 2020 |
NME7 | 1 | Nov 20, 2015 |
NOG | 1 | Mar 6, 2020 |
NOS1AP | 11 | Mar 6, 2020 |
NOTCH1 | 1 | Jul 9, 2020 |
NOTCH3 | 1 | Apr 29, 2020 |
NPC1 | 27 | Oct 6, 2020 |
NPC2 | 4 | Dec 31, 2020 |
NPHP4 | 1 | Mar 6, 2020 |
NPHS1 | 39 | Nov 10, 2020 |
NPHS2 | 20 | Oct 6, 2020 |
NPPA | 6 | Dec 2, 2020 |
NPPA-AS1 | 6 | Dec 2, 2020 |
NR0B1 | 2 | Aug 18, 2011 |
NR2F1 | 1 | Mar 6, 2020 |
NRAS | 8 | Oct 6, 2020 |
NRXN1 | 1 | Mar 6, 2020 |
NSD1 | 1 | Apr 24, 2019 |
NSDHL | 1 | Mar 6, 2020 |
NSUN2 | 2 | Apr 29, 2020 |
NSUN6 | 14 | Oct 6, 2020 |
NUP214 | 1 | Mar 6, 2020 |
NUP62 | 2 | Mar 6, 2020 |
OBSL1 | 1 | Mar 6, 2020 |
OTC | 17 | Nov 10, 2020 |
OTOF | 1 | Oct 6, 2020 |
OTUD6B | 2 | Mar 6, 2020 |
PACS1 | 1 | Mar 6, 2020 |
PAH | 137 | Dec 31, 2020 |
PALB2 | 232 | Dec 31, 2020 |
PANK2 | 1 | Dec 2, 2020 |
PCCA | 19 | Dec 31, 2020 |
PCCB | 21 | Dec 31, 2020 |
PCDH15 | 20 | Jul 1, 2020 |
PCSK9 | 64 | Dec 31, 2020 |
PDHA1 | 5 | May 13, 2020 |
PDX1 | 14 | Sep 24, 2019 |
PEX1 | 31 | Oct 6, 2020 |
PEX10 | 4 | Apr 29, 2020 |
PEX12 | 10 | Dec 31, 2020 |
PEX2 | 5 | Apr 24, 2019 |
PEX26 | 5 | Mar 6, 2020 |
PEX6 | 22 | Dec 31, 2020 |
PEX7 | 8 | Nov 10, 2020 |
PHEX | 7 | Aug 18, 2011 |
PHF8 | 1 | May 13, 2020 |
PHGDH | 5 | Apr 24, 2019 |
PHKA2 | 1 | Apr 24, 2019 |
PHKA2-AS1 | 1 | Apr 24, 2019 |
PHOX2B | 7 | Mar 6, 2020 |
PHOX2B-AS1 | 1 | Jan 25, 2018 |
PIEZO2 | 1 | Oct 6, 2020 |
PIGW | 2 | Dec 31, 2020 |
PIK3R1 | 1 | Mar 6, 2020 |
PKHD1 | 133 | Dec 31, 2020 |
PKP2 | 67 | Dec 31, 2020 |
PLD1 | 1 | Dec 31, 2020 |
PLEKHG2 | 1 | Apr 24, 2019 |
PLN | 1 | Mar 6, 2020 |
PLUT | 7 | Sep 24, 2019 |
PMM2 | 39 | Dec 2, 2020 |
PMP22 | 1 | Mar 6, 2020 |
PMS2 | 319 | Dec 31, 2020 |
PNKP | 1 | Apr 29, 2020 |
PNPLA8 | 2 | Oct 6, 2020 |
POGZ | 1 | Dec 2, 2020 |
POLD1 | 53 | Aug 6, 2020 |
POLE | 85 | Dec 2, 2020 |
POLR3B | 1 | Mar 6, 2020 |
POMGNT1 | 2 | Dec 2, 2020 |
PON2 | 9 | Dec 31, 2020 |
POU1F1 | 1 | Aug 18, 2011 |
PPM1D | 1 | Mar 6, 2020 |
PPP2R5D | 1 | Apr 24, 2019 |
PPT1 | 12 | Dec 31, 2020 |
PRF1 | 3 | Aug 6, 2020 |
PRKAG2 | 23 | Dec 2, 2020 |
PRKAR1A | 38 | Dec 31, 2020 |
PRKCG | 1 | Apr 29, 2020 |
PRMT7 | 1 | Jul 1, 2020 |
PROP1 | 4 | Aug 18, 2011 |
PRSS1 | 35 | Dec 31, 2020 |
PSEN1 | 1 | Jul 1, 2020 |
PTCH1 | 24 | Dec 2, 2020 |
PTCHD1-AS | 2 | Aug 18, 2011 |
PTEN | 74 | Dec 31, 2020 |
PTPN11 | 93 | Dec 31, 2020 |
PUF60 | 1 | Mar 6, 2020 |
PUM1 | 1 | Mar 6, 2020 |
PURA | 1 | Mar 6, 2020 |
RAB33A | 2 | Jul 1, 2020 |
RAD21 | 1 | Nov 10, 2020 |
RAD50 | 55 | Dec 31, 2020 |
RAD51C | 84 | Dec 31, 2020 |
RAD51D | 76 | Dec 2, 2020 |
RAD51L3-RFFL | 76 | Dec 2, 2020 |
RAF1 | 66 | Dec 31, 2020 |
RAG1 | 12 | May 13, 2020 |
RAG2 | 12 | Dec 31, 2020 |
RAPSN | 1 | Aug 6, 2020 |
RASA2 | 45 | Dec 31, 2020 |
RB1 | 16 | Dec 2, 2020 |
RBM20 | 23 | Dec 31, 2020 |
RELN | 2 | Apr 29, 2020 |
RET | 20 | Dec 31, 2020 |
RIF1 | 30 | Apr 29, 2020 |
RIMS1 | 1 | Nov 10, 2020 |
RIT1 | 17 | Sep 9, 2020 |
RMRP | 41 | Dec 31, 2020 |
RNASEH2B | 1 | Mar 6, 2020 |
RNASEH2C | 1 | Apr 29, 2020 |
RPH3A | 1 | Mar 6, 2020 |
RPIA | 2 | Mar 6, 2020 |
RPL36A-HNRNPH2 | 141 | Dec 31, 2020 |
RPS6KA3 | 1 | Aug 6, 2020 |
RRAS | 26 | Dec 31, 2020 |
RTEL1 | 15 | Sep 24, 2019 |
RTEL1-TNFRSF6B | 15 | Sep 24, 2019 |
RTN2 | 1 | Apr 24, 2019 |
RUNX2 | 1 | Mar 6, 2020 |
RYR1 | 9 | Jul 1, 2020 |
RYR2 | 191 | Dec 31, 2020 |
SACS | 10 | Dec 31, 2020 |
SBF1 | 2 | Apr 24, 2019 |
SCAMP4 | 2 | Dec 31, 2020 |
SCN1A | 35 | Dec 31, 2020 |
SCN1A-AS1 | 1 | Dec 31, 2020 |
SCN1B | 15 | Nov 10, 2020 |
SCN2A | 2 | Dec 31, 2020 |
SCN4A | 1 | Apr 29, 2020 |
SCN4B | 7 | Sep 9, 2020 |
SCN5A | 119 | Dec 31, 2020 |
SCN9A | 1 | Dec 31, 2020 |
SDHAF2 | 1 | Nov 10, 2020 |
SDHB | 13 | Dec 31, 2020 |
SDHC | 2 | Jan 25, 2018 |
SDHD | 8 | Apr 29, 2020 |
SERPINC1 | 1 | Mar 6, 2020 |
SETD2 | 2 | Mar 6, 2020 |
SETD5 | 1 | Aug 6, 2020 |
SF3B1 | 1 | Apr 29, 2020 |
SFTA3 | 1 | Mar 6, 2020 |
SGCA | 2 | Mar 6, 2020 |
SGCD | 8 | May 13, 2020 |
SGSH | 24 | Jul 1, 2020 |
SH2D1A | 3 | Apr 24, 2019 |
SHOC2 | 23 | Dec 2, 2020 |
SHOX | 6 | Mar 6, 2020 |
SIM1 | 1 | Dec 2, 2020 |
SLC12A6 | 7 | Dec 31, 2020 |
SLC17A5 | 13 | Dec 2, 2020 |
SLC22A5 | 35 | Oct 6, 2020 |
SLC25A1 | 2 | Mar 6, 2020 |
SLC25A15 | 1 | Oct 6, 2020 |
SLC25A20 | 8 | Jul 1, 2020 |
SLC26A1 | 13 | Apr 29, 2020 |
SLC26A11 | 1 | Jul 1, 2020 |
SLC26A2 | 17 | Nov 10, 2020 |
SLC26A4 | 1 | Apr 29, 2020 |
SLC2A10 | 17 | Dec 31, 2020 |
SLC34A3 | 8 | Jan 25, 2018 |
SLC35A3 | 1 | Jan 25, 2018 |
SLC37A4 | 18 | Dec 31, 2020 |
SLC39A5 | 1 | Oct 6, 2020 |
SLC6A19 | 1 | Apr 29, 2020 |
SLC6A8 | 1 | Apr 29, 2020 |
SLITRK1 | 1 | Mar 6, 2020 |
SMAD3 | 9 | Dec 2, 2020 |
SMAD4 | 51 | Dec 2, 2020 |
SMARCA1 | 1 | Mar 6, 2020 |
SMARCA2 | 2 | Dec 31, 2020 |
SMARCA4 | 1 | Apr 29, 2020 |
SMARCB1 | 5 | Dec 2, 2020 |
SMC3 | 1 | Apr 24, 2019 |
SMN1 | 39 | Dec 2, 2020 |
SMN2 | 1 | Apr 29, 2020 |
SMPD1 | 51 | Dec 31, 2020 |
SNAPC5 | 6 | Dec 31, 2020 |
SNHG14 | 1 | Apr 29, 2020 |
SNTA1 | 17 | Dec 31, 2020 |
SOS1 | 113 | Dec 2, 2020 |
SOS2 | 70 | Dec 2, 2020 |
SOX11 | 1 | Mar 6, 2020 |
SPAST | 1 | Mar 6, 2020 |
SPATA22 | 12 | Apr 29, 2020 |
SPECC1L | 1 | Dec 2, 2020 |
SPECC1L-ADORA2A | 1 | Dec 2, 2020 |
SPINK1 | 24 | Dec 2, 2020 |
SPR | 1 | Mar 6, 2020 |
SPRED1 | 31 | Dec 2, 2020 |
SPTAN1 | 1 | Apr 24, 2019 |
SPTBN2 | 1 | Mar 6, 2020 |
SRCAP | 2 | Oct 6, 2020 |
SRFBP1 | 1 | Jan 25, 2018 |
SSUH2 | 2 | Mar 6, 2020 |
STAG1 | 1 | Apr 24, 2019 |
STAR | 1 | Aug 18, 2011 |
STAT3 | 27 | Nov 10, 2020 |
STK11 | 96 | Dec 2, 2020 |
STON1-GTF2A1L | 3 | Aug 18, 2011 |
STYXL2 | 1 | Mar 6, 2020 |
SUFU | 8 | Apr 24, 2019 |
SUMF1 | 10 | Dec 2, 2020 |
SUOX | 2 | Apr 29, 2020 |
SURF1 | 27 | Oct 6, 2020 |
SYCE2 | 3 | Mar 6, 2020 |
SYNE1 | 3 | Mar 6, 2020 |
SYNGAP1 | 1 | Mar 6, 2020 |
TAB2 | 1 | Apr 29, 2020 |
TAF1 | 1 | Mar 6, 2020 |
TAOK1 | 1 | Mar 6, 2020 |
TARID | 2 | Apr 29, 2020 |
TAZ | 4 | Nov 10, 2020 |
TBCD | 1 | Mar 6, 2020 |
TBCK | 2 | Mar 6, 2020 |
TBX3 | 1 | Apr 29, 2020 |
TBX5 | 8 | Mar 6, 2020 |
TCAP | 8 | Nov 10, 2020 |
TCF4 | 1 | May 13, 2020 |
TCIRG1 | 4 | Aug 6, 2020 |
TGFB2 | 10 | Dec 31, 2020 |
TGFB3 | 7 | Dec 2, 2020 |
TGFBR1 | 22 | Dec 31, 2020 |
TGFBR2 | 34 | Dec 31, 2020 |
TGM1 | 1 | Mar 6, 2020 |
TH | 2 | Dec 31, 2020 |
TH2-LCR | 5 | Dec 31, 2020 |
TH2LCRR | 7 | Dec 31, 2020 |
TLL1 | 1 | Dec 31, 2020 |
TMCO1 | 1 | Dec 2, 2020 |
TMEM127 | 2 | Aug 6, 2020 |
TMEM216 | 6 | Dec 2, 2020 |
TMEM43 | 28 | Sep 9, 2020 |
TMEM50B | 1 | Aug 18, 2011 |
TMEM67 | 2 | Sep 9, 2020 |
TMLHE | 1 | Mar 6, 2020 |
TMPO | 16 | Dec 31, 2020 |
TMPO-AS1 | 3 | Nov 10, 2020 |
TMPPE | 2 | Apr 24, 2019 |
TMPRSS3 | 2 | Aug 6, 2020 |
TNC | 2 | Dec 2, 2020 |
TNFRSF13B | 14 | Sep 9, 2020 |
TNNC1 | 4 | Apr 24, 2019 |
TNNI3 | 17 | May 13, 2020 |
TNNT1 | 1 | Aug 18, 2011 |
TNNT2 | 24 | Apr 29, 2020 |
TNXB | 1 | Nov 17, 2015 |
TOE1 | 2 | Mar 6, 2020 |
TOP2B | 1 | Mar 6, 2020 |
TOPORS | 1 | Oct 6, 2020 |
TP53 | 86 | Dec 31, 2020 |
TPM1 | 6 | Mar 6, 2020 |
TPO | 2 | Mar 6, 2020 |
TPP1 | 13 | Apr 29, 2020 |
TRAPPC9 | 1 | Apr 29, 2020 |
TRB | 35 | Dec 31, 2020 |
TRIM59-IFT80 | 1 | Dec 31, 2020 |
TRIO | 1 | Mar 6, 2020 |
TRNT1 | 1 | Mar 6, 2020 |
TSC1 | 19 | Apr 29, 2020 |
TSC2 | 35 | Apr 29, 2020 |
TSEN54 | 2 | Mar 6, 2020 |
TSPAN1 | 2 | Dec 2, 2020 |
TSPAN31 | 14 | Aug 6, 2020 |
TTC7A | 2 | Dec 31, 2020 |
TTN | 622 | Dec 31, 2020 |
TTN-AS1 | 312 | Dec 31, 2020 |
TTPA | 9 | May 13, 2020 |
TTR | 38 | Mar 6, 2020 |
TUBB4A | 1 | Apr 24, 2019 |
TUBB6 | 1 | Mar 6, 2020 |
TULP1 | 1 | Aug 6, 2020 |
UBE3A | 1 | Apr 29, 2020 |
UBR1 | 1 | Mar 6, 2020 |
UNC80 | 2 | Mar 6, 2020 |
UNG | 4 | Mar 6, 2020 |
USH2A | 9 | Dec 2, 2020 |
USH2A-AS1 | 1 | Dec 2, 2020 |
USP9X | 1 | Jul 1, 2020 |
VCL | 20 | Oct 6, 2020 |
VHL | 77 | Dec 31, 2020 |
VPS13B | 23 | Aug 6, 2020 |
VPS13C | 2 | Jul 1, 2020 |
WAS | 20 | Dec 31, 2020 |
WASHC4 | 2 | Oct 6, 2020 |
WDFY3 | 1 | Mar 6, 2020 |
WDPCP | 1 | Apr 29, 2020 |
WDR11 | 1 | Mar 6, 2020 |
WDR26 | 2 | Apr 29, 2020 |
WDR45 | 1 | Mar 6, 2020 |
WDR62 | 2 | Apr 29, 2020 |
WT1 | 7 | Jul 1, 2020 |
WWOX | 1 | Mar 6, 2020 |
XPA | 8 | Sep 9, 2020 |
XPC | 22 | Dec 31, 2020 |
ZAP70 | 6 | Dec 2, 2020 |
ZDHHC24 | 10 | Sep 9, 2020 |
ZDHHC9 | 1 | Mar 6, 2020 |
ZFPM1 | 1 | Oct 6, 2020 |
ZNF711 | 1 | May 13, 2020 |
ZNHIT3 | 1 | Dec 2, 2020 |